• J AAPOS · Oct 2014

    Case Reports

    Late-diagnosis retinoblastoma with germline mosaicism in an 8-year-old.

    • Paulita Pamela P Astudillo, Helen S L Chan, Elise Héon, and Brenda L Gallie.
    • Department of Ophthalmology, The Hospital for Sick Children, Toronto, Ontario, Canada; Departments of Ophthalmology and Visual Sciences, University of Toronto, Toronto, Ontario, Canada. Electronic address: tsangpam@yahoo.com.
    • J AAPOS. 2014 Oct 1; 18 (5): 500-2.

    AbstractWe describe bilateral retinoblastoma in an 8-year-old girl presenting with macular tumor in one eye and a small peripheral tumor in the other but no detected RB1 gene mutation. Despite chemotherapy, multiple focal laser, cryotherapy, and periocular chemotherapy, tumor activity persisted and enucleation was performed. Two RB1 mutations were found in the tumor; one RB1 mutation was present in 10% of blood cells, identifying mosaicsm.Copyright © 2014 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

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